Caruso RC - Search Results

1

Mutations of MYO6 are associated with recessive deafness, DFNB37.

Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: caruso rc. Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687499 Free PMC article.

2

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. Riazuddin SA, et al. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70. doi: 10.1167/iovs.04-1280. Invest Ophthalmol Vis Sci. 2005. PMID: 15980210

3

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB. Levin SW, et al. Among authors: caruso rc. Lancet Neurol. 2014 Aug;13(8):777-87. doi: 10.1016/S1474-4422(14)70142-5. Epub 2014 Jul 2. Lancet Neurol. 2014. PMID: 24997880 Free PMC article. Clinical Trial.

4

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Sergeev YV, et al. Among authors: caruso rc. Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8. Hum Mol Genet. 2010. PMID: 20061330 Free PMC article.

5

Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia.

Miao N, Levin SW, Baker EH, Caruso RC, Zhang Z, Gropman A, Koziol D, Wesley R, Mukherjee AB, Quezado ZM. Miao N, et al. Among authors: caruso rc. Anesth Analg. 2009 Aug;109(2):372-8. doi: 10.1213/ane.0b013e3181aa6e95. Anesth Analg. 2009. PMID: 19608805 Free PMC article.

6

Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA. Vijayasarathy C, et al. Among authors: caruso rc. Hum Mutat. 2010 Nov;31(11):1251-60. doi: 10.1002/humu.21350. Hum Mutat. 2010. PMID: 20809529 Free PMC article.

7

Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis.

Levin SW, Baker EH, Gropman A, Quezado Z, Miao N, Zhang Z, Jollands A, Di Capua M, Caruso R, Mukherjee AB. Levin SW, et al. Arch Neurol. 2009 Dec;66(12):1567-71. doi: 10.1001/archneurol.2009.263. Arch Neurol. 2009. PMID: 20008666 Free PMC article.

8

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Nichols LL 2nd, Alur RP, Boobalan E, Sergeev YV, Caruso RC, Stone EM, Swaroop A, Johnson MA, Brooks BP. Nichols LL 2nd, et al. Among authors: caruso rc. Hum Mutat. 2010 Jun;31(6):E1472-83. doi: 10.1002/humu.21268. Hum Mutat. 2010. PMID: 20513135 Free PMC article.

9

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA. Vijayasarathy C, et al. Among authors: caruso rc. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839. Epub 2009 May 27. Invest Ophthalmol Vis Sci. 2009. PMID: 19474399 Free PMC article.

10

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R. MacDonald IM, et al. Ophthalmic Genet. 2012 Sep;33(3):123-9. doi: 10.3109/13816810.2011.592172. Epub 2011 Aug 2. Ophthalmic Genet. 2012. PMID: 21809908

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